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Gene : HAMP Homo sapiens

Name  ? hepcidin antimicrobial peptide Cytological Location  19q13.12
Brief Description  hepcidin antimicrobial peptide
Description  The product encoded by this gene is involved in the maintenance of iron homeostasis, and it is necessary for the regulation of iron storage in macrophages, and for intestinal iron absorption. The preproprotein is post-translationally cleaved into mature peptides of 20, 22 and 25 amino acids, and these active peptides are rich in cysteines, which form intramolecular bonds that stabilize their beta-sheet structures. These peptides exhibit antimicrobial activity against bacteria and fungi. Mutations in this gene cause hemochromatosis type 2B, also known as juvenile hemochromatosis, a disease caused by severe iron overload that results in cardiomyopathy, cirrhosis, and endocrine failure. [provided by RefSeq, Oct 2014]
  • synonyms:
  • OTTHUMG00000183295,
  • NM_021175,
  • AF309489,
  • HFE2B,
  • HEPC,
  • HAMP,
  • HEPC,
  • HGNC:15598,
  • HFE2B,
  • uc002nyw.4,
  • LEAP1,
  • PLTR,
  • LEAP1,
  • LEAP-1
  • identifiers:
  • 57817,
  • ENSG00000105697,
  • HAMP

Genome feature

Region: gene ? Length: 2616  
Location: 19:35282528-35285143 Cyto location: 19q13.12


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Function

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0 Pathways

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Interactions

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Gene --> Physical and Genetic Interactions

Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

0 Pathways

48 SN Ps

5 Cross References

18 Data Sets

4 Homologues

0 Located Features

97 Rna Seq Results